Services Single gene diagnostics
Gene

A2ML1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 899

A2ML1 - Noonan syndrome



€ 899

A2ML1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610627
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 899
Gene

AADC - Aromatic L-amino acid decarboxylase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency



€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Aromatic L-amino acid decarboxylase deficiency

This product is often ordered in combination with:

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608643
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AAGAB - palmoplantar keratoderma, type punctata *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

AAGAB - palmoplantar keratoderma, type punctata *



€ 632

AAGAB - palmoplantar keratoderma, type punctata *

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614888
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

AARS2 - Combined oxidative phosphorylation deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AARS2 - Combined oxidative phosphorylation deficiency



€ 725

AARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 612035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AASS - hyperlysinemia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 777

AASS - hyperlysinemia



€ 777

AASS - hyperlysinemia

This test is available for the following conditions:

  • Conditions > Neurological > Hyperlysinemia

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 238700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 777
Gene

ABCA1 - HDL deficiency type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ABCA1 - HDL deficiency type 2



€ 725

ABCA1 - HDL deficiency type 2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > HDL deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ABCA1- Tangier disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ABCA1- Tangier disease



€ 725

ABCA1- Tangier disease

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Tangier disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ABCA12 - lamellar, harlequin ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 1114

ABCA12 - lamellar, harlequin ichthyosis *



€ 1114

ABCA12 - lamellar, harlequin ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607800
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1114
Gene

ABCA4 - Bull's eye maculopathie

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1069

ABCA4 - Bull's eye maculopathie



€ 1069

ABCA4 - Bull's eye maculopathie

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1069
Gene

ABCA4 - cone-rod dystrophy type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1069

ABCA4 - cone-rod dystrophy type 3



€ 1069

ABCA4 - cone-rod dystrophy type 3

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1069